DDH2
MCID: DVL011
MIFTS: 16

Developmental Dysplasia of the Hip 2 (DDH2)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Developmental Dysplasia of the Hip 2

MalaCards integrated aliases for Developmental Dysplasia of the Hip 2:

Name: Developmental Dysplasia of the Hip 2 57 29 70
Ddh2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one family reported (last curated january 2014)


HPO:

31
developmental dysplasia of the hip 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615612
OMIM Phenotypic Series 57 PS142700
MedGen 41 C3715079
UMLS 70 C3715079

Summaries for Developmental Dysplasia of the Hip 2

OMIM® : 57 Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by Feldman et al., 2013). For discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (142700). (615612) (Updated 05-Apr-2021)

MalaCards based summary : Developmental Dysplasia of the Hip 2, is also known as ddh2, and has symptoms including hip pain An important gene associated with Developmental Dysplasia of the Hip 2 is DDH2 (Developmental Dysplasia Of The Hip 2). Related phenotypes are hip osteoarthritis and hip dysplasia

Related Diseases for Developmental Dysplasia of the Hip 2

Diseases in the Developmental Dysplasia of the Hip 1 family:

Developmental Dysplasia of the Hip 2

Symptoms & Phenotypes for Developmental Dysplasia of the Hip 2

Human phenotypes related to Developmental Dysplasia of the Hip 2:

31
# Description HPO Frequency HPO Source Accession
1 hip osteoarthritis 31 very rare (1%) HP:0008843
2 hip dysplasia 31 HP:0001385
3 coxa valga 31 HP:0002673
4 hip pain 31 HP:0030838

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Pelvis:
hip pain
disruption of shenton line seen on x-ray
center-edge angle less than 20 degrees seen on x-ray
tonnis angle greater than 10 degrees seen on x-ray
extrusion distance between the edge of the femoral head and ilioischial line greater than 10 mm seen on x-ray
more

Clinical features from OMIM®:

615612 (Updated 05-Apr-2021)

UMLS symptoms related to Developmental Dysplasia of the Hip 2:


hip pain

Drugs & Therapeutics for Developmental Dysplasia of the Hip 2

Search Clinical Trials , NIH Clinical Center for Developmental Dysplasia of the Hip 2

Genetic Tests for Developmental Dysplasia of the Hip 2

Genetic tests related to Developmental Dysplasia of the Hip 2:

# Genetic test Affiliating Genes
1 Developmental Dysplasia of the Hip 2 29

Anatomical Context for Developmental Dysplasia of the Hip 2

Publications for Developmental Dysplasia of the Hip 2

Articles related to Developmental Dysplasia of the Hip 2:

(show all 15)
# Title Authors PMID Year
1
Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family. 57
23716478 2013
2
Variable expression and incomplete penetrance of developmental dysplasia of the hip: clinical challenge in a 71-member multigeneration family. 57
22177793 2012
3
Diagnostic value of serum dihydrodiol dehydrogenase 2 levels in patients with non-small-cell lung cancer. 61
29874986 2018
4
Appraisal of gene action for indeterminate growth in mungbean [Vigna radiata (L.) Wilczek]. 61
26388879 2015
5
Proteomics-based identification of secreted protein dihydrodiol dehydrogenase 2 as a potential biomarker for predicting cisplatin efficacy in advanced NSCLC patients. 61
22534668 2012
6
[Causes and managements of acetabular fracture during primary total hip arthroplasty]. 61
21923027 2011
7
To screen or not to screen? A decision analysis of the utility of screening for developmental dysplasia of the hip. 61
19571094 2009
8
Dihydrodiol dehydrogenases regulate the generation of reactive oxygen species and the development of cisplatin resistance in human ovarian carcinoma cells. 61
17661040 2008
9
Study on the diagnosis time of developmental dysplasia of the hip. 61
17684868 2007
10
Expression of dihydrodiol dehydrogenase and resistance to chemotherapy and radiotherapy in adenocarcinoma cells of lung. 61
16886619 2006
11
Ubiquitous induction of resistance to platinum drugs in human ovarian, cervical, germ-cell and lung carcinoma tumor cells overexpressing isoforms 1 and 2 of dihydrodiol dehydrogenase. 61
15138708 2004
12
Inverse expression of dihydrodiol dehydrogenase and glutathione-S-transferase in patients with esophageal squamous cell carcinoma. 61
15197778 2004
13
Reduction of dihydrodiol dehydrogenase expression in resected hepatocellular carcinoma. 61
12579257 2003
14
Genetic basis of plant height and its degree of indetermination in mungbean (Vigna radiata (L.) Wilczek). 61
12564632 2002
15
Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. 61
7789999 1995

Variations for Developmental Dysplasia of the Hip 2

Expression for Developmental Dysplasia of the Hip 2

Search GEO for disease gene expression data for Developmental Dysplasia of the Hip 2.

Pathways for Developmental Dysplasia of the Hip 2

GO Terms for Developmental Dysplasia of the Hip 2

Sources for Developmental Dysplasia of the Hip 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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